Concepedia

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

Christiane Ben Hamida, Nathalie Doerflinger, Samir Belal, Catherine Y. Linder, Laurence Reutenauer, Colette Dib, Gàbor Gyapay, Alain Vignal, Denis Le Paslier, Daniel Cohen,

Nature Genetics · 1993 · 214 citations · 32 references

DOI

Concepts

References

32

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

D.R. Rosen, Teepu Siddique, David T. Patterson et al. · Nature · 1993 · 7K citations

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A second-generation linkage map of the human genome

Jean Weissenbach, Gàbor Gyapay, Colette Dib et al. · Nature · 1992 · 1.7K citations

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Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen et al. · Science · 1990 · 1.5K citations

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · PubMed · 1985 · 1.2K citations

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FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

A E Harding · Brain · 1981 · 920 citations

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